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Aliases for CRLF1 Gene

Aliases for CRLF1 Gene

  • Cytokine Receptor Like Factor 1 2 3 5
  • Cytokine-Like Factor 1 3 4
  • Zcytor5 3 4
  • CLF-1 3 4
  • Cytokine Receptor-Like Factor 1 3
  • Cytokine Type 1 Receptor CRLP-1 3
  • Cold-Induced Sweating Syndrome 2
  • Class I Cytokine Receptor 3
  • CISS1 3
  • CISS 3
  • NR6 3
  • CLF 3

External Ids for CRLF1 Gene

Previous GeneCards Identifiers for CRLF1 Gene

  • GC19M019198
  • GC19M019096
  • GC19M018549
  • GC19M018566
  • GC19M018567
  • GC19M018704
  • GC19M018266

Summaries for CRLF1 Gene

Entrez Gene Summary for CRLF1 Gene

  • This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]

GeneCards Summary for CRLF1 Gene

CRLF1 (Cytokine Receptor Like Factor 1) is a Protein Coding gene. Diseases associated with CRLF1 include Cold-Induced Sweating Syndrome 1 and Cold-Induced Sweating Syndrome. Among its related pathways are Interleukin-6 family signaling and Regulation of lipid metabolism Insulin signaling-generic cascades. GO annotations related to this gene include protein heterodimerization activity and cytokine activity. An important paralog of this gene is PRLR.

UniProtKB/Swiss-Prot for CRLF1 Gene

  • Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in nervous system development.

Gene Wiki entry for CRLF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRLF1 Gene

Genomics for CRLF1 Gene

Regulatory Elements for CRLF1 Gene

Enhancers for CRLF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G018603 1.6 FANTOM5 Ensembl ENCODE 10.1 -1.0 -974 11.1 ATF1 ARID4B DMAP1 ZNF2 ZNF48 ETS1 GLIS2 ZNF263 SP3 SP5 UBA52 CRLF1 C19orf60 TMEM59L KLHL26 SSBP4 KXD1 CRTC1 GDF1 RAB3A
GH19G018761 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7.6 -155.8 -155810 4.1 PKNOX1 AGO1 SIN3A FEZF1 ZNF121 GATA2 FOS SP5 ZHX2 JUNB COMP CRLF1 TMEM59L HAPLN4 KXD1 GC19P019540 GC19M018784
GH19G018698 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -92.6 -92552 2.8 HDGF PKNOX1 FOXA2 ARNT FEZF1 ZNF2 ZNF263 SP3 SMARCA4 ZSCAN16 CRTC1 CRLF1 UBA52 FKBP8 SLC25A42 UPF1 JUND GC19P019555 GC19M018715
GH19G018587 1.4 ENCODE dbSUPER 8.2 +18.3 18302 3.6 MLX CREB3L1 AGO1 DMAP1 FEZF1 SLC30A9 ZNF143 ZNF263 SP3 SSRP1 ENSG00000268030 UPF1 KXD1 UBA52 ENSG00000268938 C19orf60 ENSG00000269191 RFXANK CRLF1 TMEM59L
GH19G018736 1.6 FANTOM5 ENCODE dbSUPER 5.9 -132.6 -132631 7.7 FOXA2 SIN3A ARID4B DMAP1 ZNF2 SLC30A9 ZNF143 DEK ZNF263 SP5 COMP CRLF1 KXD1 GDF1 GDF15 PIR61287 GC19P019540
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRLF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRLF1 Gene

Chromosome:
19
Start:
18,572,220 bp from pter
End:
18,607,741 bp from pter
Size:
35,522 bases
Orientation:
Minus strand

Genomic View for CRLF1 Gene

Genes around CRLF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRLF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRLF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRLF1 Gene

Proteins for CRLF1 Gene

  • Protein details for CRLF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75462-CRLF1_HUMAN
    Recommended name:
    Cytokine receptor-like factor 1
    Protein Accession:
    O75462
    Secondary Accessions:
    • Q9UHH5

    Protein attributes for CRLF1 Gene

    Size:
    422 amino acids
    Molecular mass:
    46302 Da
    Quaternary structure:
    • Forms covalently linked di- and tetramers. Forms a heteromeric complex with cardiotrophin-like cytokine (CLC); the CRLF1/CLC complex is a ligand for the ciliary neurotrophic factor receptor (CNTFR).

neXtProt entry for CRLF1 Gene

Post-translational modifications for CRLF1 Gene

  • Glycosylation at isoforms=92, Asn104, isoforms=140, Asn168, isoforms=292, and Asn382
  • Modification sites at PhosphoSitePlus

Other Protein References for CRLF1 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CRLF1

No data available for DME Specific Peptides for CRLF1 Gene

Domains & Families for CRLF1 Gene

Gene Families for CRLF1 Gene

Protein Domains for CRLF1 Gene

Suggested Antigen Peptide Sequences for CRLF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75462

UniProtKB/Swiss-Prot:

CRLF1_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
Family:
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
genes like me logo Genes that share domains with CRLF1: view

Function for CRLF1 Gene

Molecular function for CRLF1 Gene

UniProtKB/Swiss-Prot Function:
Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in nervous system development.
UniProtKB/Swiss-Prot Induction:
Up-regulated in fibroblast primary cell cultures under stimulation by IFNG/IFN-gamma, TNF and IL6/interleukin-6.

Gene Ontology (GO) - Molecular Function for CRLF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 9686600
GO:0005125 contributes_to cytokine activity IDA 10966616
GO:0005127 contributes_to ciliary neurotrophic factor receptor binding IDA 10966616
GO:0005515 protein binding IPI 10966616
GO:0019955 cytokine binding IPI 15034937
genes like me logo Genes that share ontologies with CRLF1: view
genes like me logo Genes that share phenotypes with CRLF1: view

Human Phenotype Ontology for CRLF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRLF1 Gene

MGI Knock Outs for CRLF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CRLF1 Gene

Localization for CRLF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRLF1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRLF1 gene
Compartment Confidence
extracellular 5
plasma membrane 3
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CRLF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 9686600
GO:0097058 CRLF-CLCF1 complex IDA 10966616
genes like me logo Genes that share ontologies with CRLF1: view

Pathways & Interactions for CRLF1 Gene

genes like me logo Genes that share pathways with CRLF1: view

Pathways by source for CRLF1 Gene

Interacting Proteins for CRLF1 Gene

SIGNOR curated interactions for CRLF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CRLF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA --
GO:0008284 positive regulation of cell proliferation IDA 10966616
GO:0042517 positive regulation of tyrosine phosphorylation of Stat3 protein IDA --
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IDA 10966616
GO:0043524 negative regulation of neuron apoptotic process IDA 10966616
genes like me logo Genes that share ontologies with CRLF1: view

Drugs & Compounds for CRLF1 Gene

No Compound Related Data Available

Transcripts for CRLF1 Gene

Unigene Clusters for CRLF1 Gene

Cytokine receptor-like factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRLF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9
SP1:
SP2:
SP3: -
SP4:

Relevant External Links for CRLF1 Gene

GeneLoc Exon Structure for
CRLF1
ECgene alternative splicing isoforms for
CRLF1

Expression for CRLF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRLF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRLF1 Gene

This gene is overexpressed in Artery - Tibial (x10.0) and Artery - Coronary (x6.6).

Protein differential expression in normal tissues from HIPED for CRLF1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (34.9), Gallbladder (16.4), and Prostate (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CRLF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CRLF1 Gene:

CRLF1

SOURCE GeneReport for Unigene cluster for CRLF1 Gene:

Hs.114948

mRNA Expression by UniProt/SwissProt for CRLF1 Gene:

O75462-CRLF1_HUMAN
Tissue specificity: Highest levels of expression observed in spleen, thymus, lymph node, appendix, bone marrow, stomach, placenta, heart, thyroid and ovary. Strongly expressed also in fetal lung.

Evidence on tissue expression from TISSUES for CRLF1 Gene

  • Lung(4.1)
  • Nervous system(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRLF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shoulder
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with CRLF1: view

Primer Products

No data available for Protein tissue co-expression partners for CRLF1 Gene

Orthologs for CRLF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRLF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRLF1 34 35
  • 98.67 (n)
cow
(Bos Taurus)
Mammalia CRLF1 34 35
  • 92.34 (n)
dog
(Canis familiaris)
Mammalia CRLF1 34 35
  • 91.19 (n)
mouse
(Mus musculus)
Mammalia Crlf1 34 16 35
  • 87.89 (n)
rat
(Rattus norvegicus)
Mammalia Crlf1 34
  • 87.81 (n)
oppossum
(Monodelphis domestica)
Mammalia CRLF1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRLF1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRLF1 34 35
  • 79.31 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia crlf1 34
  • 70.16 (n)
zebrafish
(Danio rerio)
Actinopterygii crlf1a 34 35
  • 69.13 (n)
crlf1b 35
  • 61 (a)
OneToMany
Species where no ortholog for CRLF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRLF1 Gene

ENSEMBL:
Gene Tree for CRLF1 (if available)
TreeFam:
Gene Tree for CRLF1 (if available)

Paralogs for CRLF1 Gene

Paralogs for CRLF1 Gene

(1) SIMAP similar genes for CRLF1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CRLF1: view

Variants for CRLF1 Gene

Sequence variations from dbSNP and Humsavar for CRLF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104894668 Pathogenic, Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] 18,594,338(-) CTGGC(G/T)CAAGA reference, missense
rs104894670 Pathogenic, Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] 18,599,720(-) CGGGC(A/G)CCGCC reference, missense
rs137853143 Pathogenic, Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] 18,599,736(-) TCTAC(G/T)GGACC reference, missense
rs137853927 Pathogenic, Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] 18,596,895(-) GACTG(G/T)AAGGT reference, missense
rs137853930 Pathogenic, Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] 18,598,886(-) GAAAC(C/T)CGTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CRLF1 Gene

Variant ID Type Subtype PubMed ID
esv24367 CNV loss 19812545
nsv1072870 CNV deletion 25765185
nsv1121970 CNV deletion 24896259
nsv833776 CNV loss 17160897
nsv952422 CNV deletion 24416366

Variation tolerance for CRLF1 Gene

Residual Variation Intolerance Score: 43.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.63; 91.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRLF1 Gene

Human Gene Mutation Database (HGMD)
CRLF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRLF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRLF1 Gene

Disorders for CRLF1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for CRLF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CRLF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRLF1_HUMAN
  • Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]: An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. {ECO:0000269 PubMed:12509788, ECO:0000269 PubMed:16952376, ECO:0000269 PubMed:17436251, ECO:0000269 PubMed:17436252, ECO:0000269 PubMed:21326283, ECO:0000269 PubMed:23026229, ECO:0000269 PubMed:24488861}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CRLF1

Genetic Association Database (GAD)
CRLF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRLF1
genes like me logo Genes that share disorders with CRLF1: view

No data available for Genatlas for CRLF1 Gene

Publications for CRLF1 Gene

  1. Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family. (PMID: 9686600) Elson G.C.A. … Gauchat J.-F. (J. Immunol. 1998) 2 3 4 22 64
  2. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (PMID: 17436251) Dagoneau N. … Cormier-Daire V. (Am. J. Hum. Genet. 2007) 3 4 22 64
  3. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. (PMID: 17436252) Crisponi L. … Rutsch F. (Am. J. Hum. Genet. 2007) 3 4 22 64
  4. Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. (PMID: 12509788) Knappskog P.M. … Boman H. (Am. J. Hum. Genet. 2003) 3 4 22 64
  5. Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. (PMID: 24488861) Piras R. … Rutsch F. (Hum. Mutat. 2014) 3 4 64

Products for CRLF1 Gene

Sources for CRLF1 Gene

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